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Genes May 2024Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The gene...
Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The gene located on chromosome 12 encodes for myogenic factor 5 (MYF5), which has a role in skeletal and extraocular muscle development and rib formation. Variants in were found to cause external ophthalmoplegia with rib and vertebral anomalies (EORVA), a rare recessive condition. To date, three homozygous variants in have been reported to cause EORVA in six members of four unrelated families. Here, we present a novel homozygous frameshift variant, c.596dupA p. (Asn199Lysfs*49), causing premature protein termination and presenting with external ophthalmoplegia, ptosis, and scoliosis in three siblings from a consanguineous family of Pakistani origin. With four variants now discovered, genetic testing and paediatric assessment for extra-ocular features should be considered in all cases of congenital ophthalmoplegia.
Topics: Humans; Frameshift Mutation; Male; Female; Myogenic Regulatory Factor 5; Ophthalmoplegia; Ribs; Pedigree; Spine; Child; Homozygote
PubMed: 38927634
DOI: 10.3390/genes15060699 -
BMC Musculoskeletal Disorders Jun 2024Autologous iliac bone is commonly used as a bone graft material to achieve solid fusion in craniocervical junction (CVJ) surgery. However, the developing iliac bone of...
OBJECTIVE
Autologous iliac bone is commonly used as a bone graft material to achieve solid fusion in craniocervical junction (CVJ) surgery. However, the developing iliac bone of children is less than ideal as a bone graft material. The matured rib bone of children presents a potential substitute material for iliac bone. The aim of this study was to evaluate the efficacy of autologous rib grafts for craniocervical junction surgery in children.
METHODS
The outcomes of 10 children with abnormalities of the craniocervical junction who underwent craniocervical junction surgery between January 2020 and December 2022 were retrospectively reviewed. All patients underwent posterior fusion and internal fixation surgery with autologous rib grafts. Pre- and post-operative images were obtained and clinical follow-ups were conducted to evaluate neurological function, pain level, donor site complications, and bone fusion rates.
RESULTS
All surgeries were successful. During the 8- to 24-month follow-up period, all patients achieved satisfactory clinical results. Computed tomography at 3-6 months confirmed successful bone fusion and regeneration of the rib defect in all patients with no neurological or donor site complications.
CONCLUSION
Autologous rib bone is a safe and effective material for bone grafting in craniocervical junction fusion surgery for children that can reduce the risks of donor site complications and increase the amount of bone graft, thereby achieving a higher bone fusion rate.
Topics: Humans; Child; Male; Female; Retrospective Studies; Spinal Fusion; Bone Transplantation; Ribs; Transplantation, Autologous; Treatment Outcome; Child, Preschool; Adolescent; Atlanto-Axial Joint; Follow-Up Studies; Cervical Vertebrae; Atlanto-Occipital Joint; Tomography, X-Ray Computed
PubMed: 38926741
DOI: 10.1186/s12891-024-07607-7 -
BMC Pediatrics Jun 2024Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin... (Review)
Review
BACKGROUND
Menkes disease (MD) is a rare, inherited, multisystemic copper metabolism disorder. Classical Menkes disease is characterized by low serum copper and ceruloplasmin concentrations, leading to multiple abnormalities in the whole-body, especially in connective tissue and central nervous system. However, serum copper and ceruloplasmin levels are not reliable diagnostic biomarkers due to the low concentrations in healthy newborns either. The featured imaging manifestations play an important role in diagnosing Menkes disease. To our knowledge, there are few reports on the systemic imaging manifestations of Menkes disease.
CASE PRESENTATION
A 4-month-old male patient presented with recurrent seizures. He had cognitive, intellectual, growth, gross motor, precision movement, and language developmental lags. The patient's hemoglobin and serum ceruloplasmin level were low. On MRI, increased intracranial vascular tortuosity, cerebral and cerebellar atrophy, white matter changes, and basal ganglia abnormalities were observed. Plain radiograph revealed wormian bones, rib flaring, metaphyseal spurring, and periosteal reactions in the long bones of the limbs. A pathogenic variant in ATP7A gene was identified in the patient, so he was confirmed the diagnosis of Menkes disease. His symptoms did not improve despite symptomatic and supportive treatment during his hospitalization. Unfortunately, the infant died 3 months after leaving hospital.
CONCLUSION
A comprehensive and intuitive understanding of the disease's imaging manifestations can help clinicians to identify the disease and avoid delays in care.
Topics: Humans; Menkes Kinky Hair Syndrome; Male; Infant; Magnetic Resonance Imaging; Brain; Whole Body Imaging; Bone and Bones
PubMed: 38926644
DOI: 10.1186/s12887-024-04885-x -
BMJ Case Reports Jun 2024This brief report discusses the diagnosis, management and surgical intervention of a man in his 30s presenting with a rare traumatic sternal manubrium dislocation...
This brief report discusses the diagnosis, management and surgical intervention of a man in his 30s presenting with a rare traumatic sternal manubrium dislocation following a motorcycle crash, accompanied by multiple concomitant rib fractures. The severity and complexity of the patient's injuries necessitated an operative approach for his sternomanubrial dislocation, emphasising the importance of multidisciplinary coordination, accurate diagnosis and prompt surgical intervention. The report provides valuable insights into the successful application of open reduction and internal fixation with plating in a real-world setting, which resulted in positive patient outcomes, despite the rarity and severity of this type of trauma. It further underscores the need for additional research to advance best practices for managing traumatic sternal manubrium dislocations in the context of high-impact injuries.
Topics: Humans; Male; Accidents, Traffic; Rib Fractures; Motorcycles; Joint Dislocations; Fracture Fixation, Internal; Adult; Manubrium; Sternum
PubMed: 38925669
DOI: 10.1136/bcr-2023-258312 -
Facial Plastic Surgery : FPS Jun 2024Generally, revision rhinoplasty cases require use of stiff grafts to restore the lost support. However, the majority of patients indicated for revision surgery presents...
Generally, revision rhinoplasty cases require use of stiff grafts to restore the lost support. However, the majority of patients indicated for revision surgery presents with lack of bony cartilaginous framework of the septum, especially after previous septoplasty. Thus, surgeons compel to harvest costal cartilage. At the same time rib graft harvesting is associated with additional trauma and risk of serious complications. Being ENT surgeons, we often resect a part of the lateral wall of inferior nasal meatus during extended endoscopic approach to the maxillary sinus. We supposed, that this bone plate can be used as a donor site for rhinoplasty graft harvesting. The aim of our study was radiological assessment of feasibility and limits of using the inferior meatus lateral wall (IMW) as a donor site for rhinoplasty bone graft. A retrospective evaluation of 100 CT scans of sinuses was conducted. Further measurments of the inferior meatus lateral wall were performed: average length and width (28.06 ± 4.03 mm and 19.73 ± 3.08 mm, respectively,) thickness (0.62 ± 0.21 mm), and average deviation from the sagittal plane (17.7 ± 9.53 degree). According to obtained measurements, described donor site is appropriate to harvest nice straight bony fragment. The IMLW bone graft was used in 4 revision rhinoplasty cases. There were no postoperative complications. During the long-term follow-up, patients reported significant improvement in esthetics, function, and social aspects according to ROE. Thus, described technique is an easy and safe method for bone harvesting for revision rhinoplasty. Our first experience demonstrated convenience and stability of IMLW grafts for revision rhinoplasty during the follow-up period of up to 2 years.
PubMed: 38925164
DOI: 10.1055/a-2353-3380 -
PloS One 2024The volume of human carbon (δ13C) and nitrogen (δ15N) isotope data produced in archaeological research has increased markedly in recent years. However, knowledge of...
The volume of human carbon (δ13C) and nitrogen (δ15N) isotope data produced in archaeological research has increased markedly in recent years. However, knowledge of bone remodelling, its impact on isotope variation, and the temporal resolution of isotope data remains poorly understood. Varied remodelling rates mean different elements (e.g., femur and rib) produce different temporal signals but little research has examined intra-element variability. This study investigates human bone remodelling using osteon population density and the relationship with carbon and nitrogen isotope data at a high resolution, focusing on variation through femoral cross-sections, from periosteal to endosteal surfaces. Results demonstrate considerable differences in isotope values between cross-sectional segments of a single fragment, by up to 1.3‰ for carbon and 1.8‰ for nitrogen, illustrating the need for standardised sampling strategies. Remodelling also varies between bone sections, occurring predominantly within the endosteal portion, followed by the midcortical and periosteal. Therefore, the endosteal portion likely reflects a shorter period of life closer to the time of death, consistent with expectations. By contrast, the periosteal surface provides a longer average, though there were exceptions to this. Results revealed a weak negative correlation between osteon population density and δ15N or δ13C, confirming that remodelling has an effect on isotope values but is not the principal driver. However, a consistent elevation of δ15N and δ13C (0.5‰ average) was found between the endosteal and periosteal regions, which requires further investigation. These findings suggest that, with further research, there is potential for single bone fragments to reconstruct in-life dietary change and mobility, thus reducing destructive sampling.
Topics: Humans; Femur; Bone Remodeling; Carbon Isotopes; Nitrogen Isotopes; Female; Male; Adult; Middle Aged
PubMed: 38923938
DOI: 10.1371/journal.pone.0305089 -
Journal of Veterinary Emergency and... Jun 2024To describe the unique finding and treatment of a dog with cardiac herniation due to traumatic pericardial rupture.
OBJECTIVE
To describe the unique finding and treatment of a dog with cardiac herniation due to traumatic pericardial rupture.
CASE SUMMARY
A 6.5-year-old entire male Yorkshire Terrier was presented for further management after being hit by a car. Despite suspected significant intrathoracic trauma at that time, the patient regained hemodynamic stability and had orthopedic surgery to correct a right iliac fracture. The patient was readmitted to the hospital 12 days following the initial visit due to considerable respiratory difficulty after accidentally being dropped several feet. Thoracic radiographs revealed an unusual severe mediastinal shift to the left with an atypical position of the cardiac silhouette against the left lateral thoracic wall. Due to the severe respiratory compromise of the patient and newly developed pneumothorax, an exploratory thoracotomy was recommended, where a complete rupture of the pericardium was identified, with secondary left-sided prolapse of the heart. Other more common intrathoracic injuries (ie, lung perforation, rib fractures) were also identified and partially repaired. The patient recovered successfully and was discharged 4 days postoperatively.
NEW OR UNIQUE INFORMATION PROVIDED
This is the first case report in the veterinary literature of traumatic pericardial rupture and cardiac herniation. According to human case descriptions, this is a rare and often fatal occurrence, which can be significantly challenging to diagnose preoperatively or antemortem. Emergency veterinary clinicians should be aware of this rare but important complication of blunt thoracic trauma. Surgical intervention may be necessary in cases with suspected or confirmed entrapment of great vessels or cardiac chambers, although these abnormalities were not present in this case.
PubMed: 38923376
DOI: 10.1111/vec.13392 -
Alimentary Pharmacology & Therapeutics Jun 2024Falls and fractures are common and morbid for patients with cirrhosis. Bisphosphonates are recommended for the prevention of fractures for people with osteoporosis...
BACKGROUND
Falls and fractures are common and morbid for patients with cirrhosis. Bisphosphonates are recommended for the prevention of fractures for people with osteoporosis cirrhosis; however, data supporting effectiveness in cirrhosis are lacking.
AIM
We sought to emulate a clinical trial of bisphosphonates in cirrhosis.
METHODS
We used national Medicare data (2008-2020) to examine the 5-year risk of fractures in patients who did or did not receive bisphosphonates with a new-user design among people diagnosed with cirrhosis and osteoporosis. We balanced treated and untreated with inverse probability of treatment weighting, evaluated intention-to-treat and as-treated effects, and examined both control exposures (statin use) and outcomes (decompensation) to test causal relationships.
RESULTS
There were 253 and 20,888 new users and non-users of bisphosphonates, respectively. The median age was 74 years. The most common bisphosphonate used was alendronate (73.6%). Bisphosphonates significantly reduced fractures overall (27.5% vs. 33.0%, p = 0.0004) in the intention-to-treat analysis, particularly for people <65 years (sHR 0.56) old, men (sHR 0.64) and those with non-alcohol related liver disease (sHR 0.85). Though there were fewer arm (20.7% vs. 26.4%, p < 0.0001) and femur (28.9% vs. 31.2%, p = 0.005), there were more spinal (25.8% vs. 19.0%), rib (40.0% vs. 32.2%) and skull (10.1% vs. 8.7%) fractures. In the as-treated analysis, cumulative bisphosphonate exposure significantly reduced fractures, sHR 0.95 95% CI (0.91, 0.98). Treatment was inconsistent; bisphosphonate users spent 29.9% person-years of follow-up on the drug.
CONCLUSION
In a nationally representative cohort of elderly patients with cirrhosis, bisphosphonates reduced fractures overall. Efforts to increase uptake and drug continuation are needed.
PubMed: 38922994
DOI: 10.1111/apt.18127 -
Annals of Biomedical Engineering Jun 2024Evaluating Behind Armor Blunt Trauma (BABT) is a critical step in preventing non-penetrating injuries in military personnel, which can result from the transfer of...
Evaluating Behind Armor Blunt Trauma (BABT) is a critical step in preventing non-penetrating injuries in military personnel, which can result from the transfer of kinetic energy from projectiles impacting body armor. While the current NIJ Standard-0101.06 standard focuses on preventing excessive armor backface deformation, this standard does not account for the variability in impact location, thorax organ and tissue material properties, and injury thresholds in order to assess potential injury. To address this gap, Finite Element (FE) human body models (HBMs) have been employed to investigate variability in BABT impact conditions by recreating specific cases from survivor databases and generating injury risk curves. However, these deterministic analyses predominantly use models representing the 50th percentile male and do not investigate the uncertainty and variability inherent within the system, thus limiting the generalizability of investigating injury risk over a diverse military population. The DoD-funded I-PREDICT Future Naval Capability (FNC) introduces a probabilistic HBM, which considers uncertainty and variability in tissue material and failure properties, anthropometry, and external loading conditions. This study utilizes the I-PREDICT HBM for BABT simulations for three thoracic impact locations-liver, heart, and lower abdomen. A probabilistic analysis of tissue-level strains resulting from a BABT event is used to determine the probability of achieving a Military Combat Incapacitation Scale (MCIS) for organ-level injuries and the New Injury Severity Score (NISS) is employed for whole-body injury risk evaluations. Organ-level MCIS metrics show that impact at the heart can cause severe injuries to the heart and spleen, whereas impact to the liver can cause rib fractures and major lacerations in the liver. Impact at the lower abdomen can cause lacerations in the spleen. Simulation results indicate that, under current protection standards, the whole-body risk of injury varies between 6 and 98% based on impact location, with the impact at the heart being the most severe, followed by impact at the liver and the lower abdomen. These results suggest that the current body armor protection standards might result in severe injuries in specific locations, but no injuries in others.
PubMed: 38922366
DOI: 10.1007/s10439-024-03564-3 -
Journal of Imaging May 2024Meat characterized by a high marbling value is typically anticipated to display enhanced sensory attributes. This study aimed to predict the marbling scores of rib-eye,...
Meat characterized by a high marbling value is typically anticipated to display enhanced sensory attributes. This study aimed to predict the marbling scores of rib-eye, steaks sourced from the Longissimus dorsi muscle of different cattle types, namely Boran, Senga, and Sheko, by employing digital image processing and machine-learning algorithms. Marbling was analyzed using digital image processing coupled with an extreme gradient boosting (GBoost) machine learning algorithm. Meat texture was assessed using a universal texture analyzer. Sensory characteristics of beef were evaluated through quantitative descriptive analysis with a trained panel of twenty. Using selected image features from digital image processing, the marbling score was predicted with R (prediction) = 0.83. Boran cattle had the highest fat content in sirloin and chuck cuts (12.68% and 12.40%, respectively), followed by Senga (11.59% and 11.56%) and Sheko (11.40% and 11.17%). Tenderness scores for sirloin and chuck cuts differed among the three breeds: Boran (7.06 ± 2.75 and 3.81 ± 2.24, respectively), Senga (5.54 ± 1.90 and 5.25 ± 2.47), and Sheko (5.43 ± 2.76 and 6.33 ± 2.28 Nmm). Sheko and Senga had similar sensory attributes. Marbling scores were higher in Boran (4.28 ± 1.43 and 3.68 ± 1.21) and Senga (2.88 ± 0.69 and 2.83 ± 0.98) compared to Sheko (2.73 ± 1.28 and 2.90 ± 1.52). The study achieved a remarkable milestone in developing a digital tool for predicting marbling scores of Ethiopian beef breeds. Furthermore, the relationship between quality attributes and beef marbling score has been verified. After further validation, the output of this research can be utilized in the meat industry and quality control authorities.
PubMed: 38921607
DOI: 10.3390/jimaging10060130